- Tangier syndrome
- *Tangier syndrome is also known as familial alpha-lipoprotien deficiency*
- Its a rare disorder by a servere reduction in the amount of high density lipoprotien/ "high cholesterol".
- Tangier Disease has an autosomal recessive pattern of inheritance.
- approximately 50 cases of tangier syndrome have been identified it is a rare disorder with approximately 100 cases world wide. More cases likely undiagnosed.
- signs of tangier syndrome are slightly elevated amount of fat in the blood disturbances in nerve function; enlarged, orange colored tonsils.
- Mutations in the ABCA1 gene cause Tangier Syndrome
- This syndrome is inherited in a recessive pattern(both copies of the gene in each cell have mutations). The parents of an individual with autosomal recessive condition each carry one copy of the mutated gene, but they dont't show signs.
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